Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.74801937del , CM000671.2:g.74801937del	GRCh38
NC_000009.11:g.77416853del , CM000671.1:g.77416853del	GRCh37
NC_000009.10:g.76606673del	NCBI36
NG_017036.1:g.91158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360774.6:c.1970del MANE Select	ENSP00000354006.1:p.Met657ArgfsTer9
ENST00000360774.5:c.1970del	ENSP00000354006.1:p.Met657ArgfsTer9
ENST00000361255.7:c.1955del	ENSP00000354962.3:p.Met652ArgfsTer9
ENST00000449912.6:c.1955del	ENSP00000396672.2:p.Met652ArgfsTer9
NM_001177310.1:c.1955del	NP_001170781.1:p.Met652ArgfsTer9
NM_001177311.1:c.1955del	NP_001170782.1:p.Met652ArgfsTer9
NM_017662.4:c.1970del	NP_060132.3:p.Met657ArgfsTer9
XM_011518244.1:c.1970del	XP_011516546.1:p.Met657ArgfsTer9
XM_011518245.1:c.1877del	XP_011516547.1:p.Met626ArgfsTer9
XM_011518246.1:c.1970del	XP_011516548.1:p.Met657ArgfsTer9
XM_011518247.1:c.1970del	XP_011516549.1:p.Met657ArgfsTer9
XM_011518248.1:c.1829del	XP_011516550.1:p.Met610ArgfsTer9
XM_011518249.1:c.1736del	XP_011516551.1:p.Met579ArgfsTer9
XM_011518250.1:c.1970del	XP_011516552.1:p.Met657ArgfsTer9
XM_011518251.1:c.1241del	XP_011516553.1:p.Met414ArgfsTer9
XM_011518252.1:c.1970del	XP_011516554.1:p.Met657ArgfsTer9
XM_011518253.1:c.-94del	XP_011516555.1:n.-94del
XM_011518254.1:c.1970del	XP_011516556.1:p.Met657ArgfsTer9
XM_011518255.1:c.1970del	XP_011516557.1:p.Met657ArgfsTer9
XR_929716.1:n.2208del
XR_929717.1:n.2208del
XR_929718.1:n.2208del
XM_011518251.2:c.1241del	XP_011516553.1:p.Met414ArgfsTer9
XM_011518252.2:c.1970del	XP_011516554.1:p.Met657ArgfsTer9
XM_011518255.2:c.1970del	XP_011516557.1:p.Met657ArgfsTer9
XM_017014287.1:c.1736del	XP_016869776.1:p.Met579ArgfsTer9
XM_017014288.1:c.1736del	XP_016869777.1:p.Met579ArgfsTer9
XM_017014289.1:c.1970del	XP_016869778.1:p.Met657ArgfsTer9
XR_001746185.1:n.2208del
XR_929717.2:n.2208del
NM_017662.5:c.1970del MANE Select	NP_060132.3:p.Met657ArgfsTer9
NM_001177310.2:c.1955del	NP_001170781.1:p.Met652ArgfsTer9
NM_001177311.2:c.1955del	NP_001170782.1:p.Met652ArgfsTer9